C0152427 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
physical disorder
|
Abnormality of limbs; Abnormality of the skeletal system
|
112 |
C1384666 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the ear
|
84 |
C0878659 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
|
Growth abnormality
|
77 |
C0152423 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
|
Abnormality of the ear
|
40 |
C0014544 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
25 |
C0685381 |
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
3 |
C0265269 |
Lacrimoauriculodentodigital syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
3 |
C0014547 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
C0406803 |
Syringocystadenoma Papilliferum
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
2 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C2674173 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease
|
|
1 |
C1864852 |
CATSHL syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C2677099 |
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0410529 |
Hypochondroplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C1864436 |
Muenke Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1300257 |
Thanatophoric dysplasia, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C1868678 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |